Birth after low-level +20 Aneuploid Mosaic Embryo Transfer: A Case Report

• Published in: JBRA assisted reproduction Vol. 28; no. 1; pp. 203 - 205
• Main Authors: Hentschke, Marta Ribeiro, Petzold, Aline Petracco, Badalotti-Teloken, Isadora, Dornelles, Victória Campos, Wingert, Fabiana Mariani, Azambuja, Ricardo, Sanseverino, Maria Teresa Vieira, Petracco, Alvaro, Badalotti, Mariangela
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade Brasileira de Reprodução Humana (Brazilian Society of Assisted Reproduction) 01.01.2024; Brazilian Society of Assisted Reproduction
• Subjects: Age; Apgar score; Biopsy; Birth weight; Births; Case Report; Case reports; Chromosomes; Eggs; Embryos; Females; Fetuses; Genetic counseling; In vitro fertilization; Infertility; Morphology; Ovaries; Patients; Pregnancy; Sperm; Ultrasonic imaging; blastocyst; in vitro maturation; trisomy; mosaic embryo transfer; gestation; PESA
• ISSN: 1518-0557; 1517-5693; 1518-0557
• DOI: 10.5935/1518-0557.20230055

Recently, it has been discussed whether or not mosaic embryo transfers should be performed since they might result in viable pregnancies, although they often end up being discarded. We report a case of successful pregnancy, after a mosaic embryo transfer from an in vitro matured egg and frozen PESA sperm. Tests performed on a female aged 40 years and a male aged 37 years seeking fertility treatment found she had an adequate ovarian reserve and patent fallopian tubes. He had a history of cryptorchidism and inguinal hernia repair. The spermogram showed azoospermia, and testicular ultrasound showed an atrophic left testicle and a normal right testis. The vas deferens was palpated during physical examination. Intracytoplasmic sperm injection with percutaneous epididymal sperm aspiration (PESA) was indicated. Two cycles of IVF after controlled ovarian stimulation with follitropin delta was performed. In the first cycle, seven mature eggs were inseminated, two fertilized normally, resulting in one blastocyst biopsied and analyzed by NGS with complex aneuploid results. In the second cycle, frozen sperm from PESA was used. Three eggs were inseminated on the day of the procedure (resulting in 2 blastocysts), and three in vitro matured eggs were inseminated after 24 hours (resulting in 1 blastocyst). NGS analysis showed two complex aneuploid embryos and one 40% low-level trisomy 20 aneuploid mosaicism (+20) for the post 24-hour embryo. A mosaic embryo transfer was performed, resulting in clinical pregnancy and birth of a healthy baby girl with a normal blood karyotype. Mosaic embryo transfer is a topic for discussion. Certain levels of mosaicism do not seem to pose risks to the development of the fetus.